Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811348 | SCV000951609 | pathogenic | Multiple endocrine neoplasia, type 1 | 2019-06-18 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the MEN1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions encompassing the whole MEN1 coding region have been reported in individuals affected with multiple endocrine neoplasia type 1 (PMID: 11836268, 25527055) Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). For these reasons, this variant has been classified as Pathogenic. |